伴SET::NUP214融合与NOTCH1、PHF6基因突变的ETP-ALL 1例并文献复习  

A Case of ETP-ALL with SET::NUP214 Fusion and NOTCH1,PHF6 Gene Mutations:Case Report and Literature Review

作　　者：王文珊 WANG Wenshan(Jiangmen Central Hospital,Jiangmen 529000,China)

机构地区：[1]江门市中心医院,广东江门529000

出　　处：《延边大学医学学报》2025年第3期1-3,共3页Journal of Medical Science Yanbian University

摘　　要：目的:探讨伴SET::NUP214融合与NOTCH1、PHF6基因突变的早期前体T淋巴母细胞白血病(ETP-ALL)特点和治疗预后。方法:回顾性分析2023年10月收治的1例伴SET::NUP214融合与NOTCH1、PHF6基因突变的ETP-ALL患者临床资料,并复习相关文献。结果:39岁男性患者因反复气促、咳嗽入院,检查发现胸腔积液(髓外浸润),经MICM诊断为早期前体(ETP)伴小克隆B细胞增生(正常核型,SET::NUP214阳性,伴NOTCH1、PHF6基因突变),HA方案联合维奈克拉化疗后完全缓解,治疗效果显著。结论:伴SET::NUP214融合与NOTCH1、PHF6基因突变的ETP-ALL与异常B细胞克隆增生病例临床罕见,临床诊疗中应加强SET::NUP214融合基因的筛查,有助于提高检出率,HA方案联合维奈克拉化疗可改善患者预后。Objective:To investigate the clinical characteristics and treatment outcomes of early T-cell precursor acute lymphoblastic leukemia(ETP-ALL)with SET::NUP214 fusion and NOTCH1/PHF6 gene mutations.Methods:We retrospectively analyzed the clinical data of a 39-year-old male patient diagnosed with ETP-ALL(SET::NUP214 fusion-positive,NOTCH1/PHF6 mutations)in October 2023 and reviewed relevant literature.Results:The patient presented with recurrent dyspnea and cough.Examinations revealed pleural effusion(indicating extramedullary infiltration).Diagnosis via MICM(morphology,immunology,cytogenetics,and molecular biology)confirmed ETP-ALL with a small clonal B-cell proliferation(normal karyotype,SET::NUP214-positive,NOTCH1/PHF6 mutations).Treatment with the HA regimen combined with Venetoclax achieved complete remission for one year,demonstrating significant efficacy.Conclusion:ETP-ALL cases with SET::NUP214 fusion and NOTCH1/PHF6 mutations,accompanied by clonal B-cell proliferation,are clinically rare.Enhanced screening for SET::NUP214 fusion during diagnosis improves detection rates.The HA regimen combined with Venetoclax may optimize patient prognosis.

关 键 词：早期前体T淋巴母细胞白血病 免疫分型 SET::NUP214 NOTCH1基因 PHF6基因 

分 类 号：R733.7[医药卫生—肿瘤]